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Woodhouse-Sakati sendromu

Kalıtsal - AR

Hipogonadizm (kızlarda amenore, kız ve erkeklerde sekonder cinsiyet karakterlerinin yokluğu)

“Insulin-like growth factor 1 (IGF-1)” eksikliği

Diabetes mellitus (tip 2)

Hiperlipidemi

Hipotiroidizm

Alopesi (saç ve kaşların tam dökülmesi)

Deride erken yaşlanma

Yüz üçgen biçiminde

Edinsel hipodonti

Yutma güçlüğü

Gelişme geriliği

Psikomotor gerilik

Nörolojik bozukluklar

Konuşma-İşitme sorunları

Zeka geriliği

 

  • Al-Semari A, Bohlega S. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. American Journal of Medical Genetics A, 143A:149–160, 2007

  • Medica I, Sepcic J, Peterlin B. Woodhouse-Sakati syndrome: case report and symptoms review. Genetic Counseling, 18: 227-231, 2007

  • Alazami AM, Schneider SA, Bonneau D, et al. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clinical Genetics, 78: 585-590, 2010

  • Steindl K, Alazami AM, Bhatia KP, et al. A novel C2orf37 mutation causes the first Italian cases of Woodhouse-Sakati syndrome. Clinical Genetics, 78:594–597, 2010

  • Agopiantz M, Corbonnois P, Sorlin A, et al. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. Journal of Endocrinological Investigation, 37:1–7, 2014